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Translational Diagnostics: An In-House Pipeline to Validate Genetic Variants in Children with Undiagnosed and Rare Diseases.
Pijuan J, Rodríguez-Sanz M, Natera-de Benito D, Ortez C, Altimir A, Osuna-López M, Roura M, Ugalde M, Van de Vondel L, Reina-Castillón J, Fons C, Benítez R, Nascimento A, Hoenicka J, Palau F. Pijuan J, et al. Among authors: palau f. J Mol Diagn. 2021 Jan;23(1):71-90. doi: 10.1016/j.jmoldx.2020.10.006. Epub 2020 Oct 24. J Mol Diagn. 2021. PMID: 33223419 Free article.
Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain.
Sivera R, Frasquet M, Lupo V, García-Sobrino T, Blanco-Arias P, Pardo J, Fernández-Torrón R, de Munain AL, Márquez-Infante C, Villarreal L, Carbonell P, Rojas-García R, Segovia S, Illa I, Frongia AL, Nascimento A, Ortez C, García-Romero MDM, Pascual SI, Pelayo-Negro AL, Berciano J, Guerrero A, Casasnovas C, Camacho A, Esteban J, Chumillas MJ, Barreiro M, Díaz C, Palau F, Vílchez JJ, Espinós C, Sevilla T. Sivera R, et al. Among authors: palau f. Sci Rep. 2017 Jul 27;7(1):6677. doi: 10.1038/s41598-017-06894-6. Sci Rep. 2017. PMID: 28751717 Free PMC article.
Behavioral addictions in early-onset Parkinson disease are associated with DRD3 variants.
Castro-Martínez XH, García-Ruiz PJ, Martínez-García C, Martínez-Castrillo JC, Vela L, Mata M, Martínez-Torres I, Feliz-Feliz C, Palau F, Hoenicka J. Castro-Martínez XH, et al. Among authors: palau f. Parkinsonism Relat Disord. 2018 Apr;49:100-103. doi: 10.1016/j.parkreldis.2018.01.010. Epub 2018 Jan 12. Parkinsonism Relat Disord. 2018. PMID: 29361389
Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience.
Batllori M, Molero-Luis M, Ormazabal A, Montero R, Sierra C, Ribes A, Montoya J, Ruiz-Pesini E, O'Callaghan M, Pias L, Nascimento A, Palau F, Armstrong J, Yubero D, Ortigoza-Escobar JD, García-Cazorla A, Artuch R. Batllori M, et al. Among authors: palau f. J Inherit Metab Dis. 2018 Nov;41(6):1147-1158. doi: 10.1007/s10545-018-0224-x. Epub 2018 Jul 4. J Inherit Metab Dis. 2018. PMID: 29974349
Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease.
Jou C, Ortigoza-Escobar JD, O'Callaghan MM, Nascimento A, Darling A, Pias-Peleteiro L, Perez-Dueñas B, Pineda M, Codina A, Arjona C, Armstrong J, Palau F, Ribes A, Gort L, Tort F, Navas P, Ruiz-Pesini E, Emperador S, Lopez-Gallardo E, Bayona-Bafaluy P, Montero R, Jimenez-Mallebrera C, Garcia-Cazorla A, Montoya J, Yubero D, Artuch R. Jou C, et al. Among authors: palau f. J Clin Med. 2019 Jan 10;8(1):68. doi: 10.3390/jcm8010068. J Clin Med. 2019. PMID: 30634555 Free PMC article.
CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings.
Carrera-García L, Natera-de Benito D, Dieterich K, de la Banda MGG, Felter A, Inarejos E, Codina A, Jou C, Roldan M, Palau F, Hoenicka J, Pijuan J, Ortez C, Expósito-Escudero J, Durand C, Nugues F, Jimenez-Mallebrera C, Colomer J, Carlier RY, Lochmüller H, Quijano-Roy S, Nascimento A. Carrera-García L, et al. Among authors: palau f. Am J Med Genet A. 2019 Jun;179(6):915-926. doi: 10.1002/ajmg.a.61122. Epub 2019 Mar 14. Am J Med Genet A. 2019. PMID: 30868735 Review.
203 results